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Variant : CV383166 (GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3) Homo sapiens

Symbol: CV383166
Name: GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3
Condition: See cases [RCV000448271]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABCB11   ABI2   ACADL   ADAM23   AGPS   ALS2   ANKAR   ANKRD44   AOX1   ASNSD1   ATF2   ATP5MC3   BBS5   BMPR2   BOLL   BZW1   C2CD6   C2orf66   C2orf69   C2orf80   C2orf88   CALCRL   CARF   CASP10   CASP8   CAVIN2   CCDC141   CCDC150   CCDC173   CCNYL1   CD28   CDCA7   CDK15   CERKL   CFLAR   CHN1   CHRNA1   CIR1   CLK1   COL3A1   COL5A2   COQ10B   CPO   CPS1   CREB1   CRYGA   CRYGB   CRYGC   CRYGD   CTLA4   CWC22   CYBRD1   CYP20A1   DCAF17   DHRS9   DIRC1   DLX1   DLX2   DNAH7   DNAJC10   DUSP19   DYNC1I2   DYTN   EEF1B2   ERBB4   ERICH2   EVX2   FAM117B   FAM126B   FAM171B   FASTKD1   FASTKD2   FKBP7   FLACC1   FRZB   FSIP2   FTCDNL1   FZD5   FZD7   GAD1   GLS   GORASP2   GPR1   GPR155   GTF3C3   GULP1   HAT1   HECW2   HIBCH   HNRNPA3   HOXD1   HOXD10   HOXD11   HOXD12   HOXD13   HOXD3   HOXD4   HOXD8   HOXD9   HSPD1   HSPE1   ICA1L   ICOS   IDH1   IKZF2   INO80D   INPP1   ITGA4   ITGA6   ITGAV   ITPRID2   KANSL1L   KCTD18   KLF7   KLHL23   KLHL41   LANCL1   LNPK   LRP2   MAIP1   MAP2   MAP3K20   MARS2   MDH1B   METAP1D   METTL21A   METTL5   METTL8   MFSD6   MIR10B   MIR1258   MOB4   MPP4   MSTN   MTX2   MYL1   MYO1B   MYO3B   NAB1   NABP1   NBEAL1   NCKAP1   NDUFB3   NDUFS1   NEMP2   NEUROD1   NFE2L2   NIF3L1   NOP58   NRP2   NUP35   OLA1   ORC2   ORMDL1   OSBPL6   OSGEPL1   PARD3B   PCGEM1   PDE11A   PDE1A   PDK1   PGAP1   PHOSPHO2   PIKFYVE   PJVK   PLCL1   PLEKHA3   PLEKHM3   PMS1   PPIG   PPIL3   PPP1R1C   PRKRA   PTH2R   RAPGEF4   RAPH1   RBM45   RFTN2   RPE   SATB2   SCRN3   SESTD1   SF3B1   SGO2   SLC25A12   SLC39A10   SLC40A1   SP3   SP5   SP9   SPAG16   SPATS2L   SSB   STAT1   STAT4   STK17B   STRADB   SUMO1   TFPI   TLK1   TMEFF2   TMEM237   TRAK2   TTC30A   TTC30B   TTN   TYW5   UBE2E3   UBR3   UNC80   VWC2L   WDR12   WDR75   WIPF1   ZC3H15   ZDBF2   ZNF385B   ZNF804A   ZSWIM2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372169,829,974 - 215,521,436CLINVAR
Cytogenetic Map22q31.1-35CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12852981
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-03-17
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.